LOCUS       NM_001039211            3864 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ATPase family AAA domain containing 3C (ATAD3C), mRNA.
ACCESSION   NM_001039211 XM_496454 XM_929441 XM_933664 XM_933668 XM_933672
            XM_937413 XM_943284 XM_943293 XM_943297
VERSION     NM_001039211.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3864)
  AUTHORS   Gaudo,P., de Tomas-Mateo,E., Garrido-Perez,N., Santana,A.,
            Ruiz-Pesini,E., Montoya,J. and Bayona-Bafaluy,P.
  TITLE     'ATAD3C regulates ATAD3A assembly and function in the mitochondrial
            membrane'
  JOURNAL   Free Radic Biol Med 211, 114-126 (2024)
   PUBMED   38092275
  REMARK    GeneRIF: 'ATAD3C regulates ATAD3A assembly and function in the
            mitochondrial membrane'.
REFERENCE   2  (bases 1 to 3864)
  AUTHORS   Desai,R., Frazier,A.E., Durigon,R., Patel,H., Jones,A.W., Dalla
            Rosa,I., Lake,N.J., Compton,A.G., Mountford,H.S., Tucker,E.J.,
            Mitchell,A.L.R., Jackson,D., Sesay,A., Di Re,M., van den
            Heuvel,L.P., Burke,D., Francis,D., Lunke,S., McGillivray,G.,
            Mandelstam,S., Mochel,F., Keren,B., Jardel,C., Turner,A.M., Ian
            Andrews,P., Smeitink,J., Spelbrink,J.N., Heales,S.J., Kohda,M.,
            Ohtake,A., Murayama,K., Okazaki,Y., Lombes,A., Holt,I.J.,
            Thorburn,D.R. and Spinazzola,A.
  TITLE     ATAD3 gene cluster deletions cause cerebellar dysfunction
            associated with altered mitochondrial DNA and cholesterol
            metabolism
  JOURNAL   Brain 140 (6), 1595-1610 (2017)
   PUBMED   28549128
  REMARK    GeneRIF: ATAD3C region deletions cause cerebellar dysfunction
            associated with altered mitochondrial DNA and cholesterol
            metabolism.
REFERENCE   3  (bases 1 to 3864)
  AUTHORS   Li,S. and Rousseau,D.
  TITLE     [ATAD3, a vital membrane-bound mitochondrial ATPase involved in
            tumor progression]
  JOURNAL   Med Sci (Paris) 27 (12), 1089-1095 (2011)
   PUBMED   22192748
  REMARK    GeneRIF: ATAD3 may therefore be implicated in an unknown but
            essential and growth-linked mitochondrial function existing since
            pluri-cellular -organization and involved in tumorigenesis.
            Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL391244.11 and AL157945.21.
            
            On May 17, 2019 this sequence version replaced NM_001039211.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK091918.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2159931
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378785.7/ ENSP00000368062.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1070              AL391244.11        6314-7383           c
            1071-1147           AL391244.11        4950-5026           c
            1148-1217           AL391244.11        4638-4707           c
            1218-1373           AL391244.11        2572-2727           c
            1374-1433           AL391244.11        1553-1612           c
            1434-1559           AL391244.11        1156-1281           c
            1560-1684           AL391244.11        723-847             c
            1685-1736           AL157945.21        158-209
            1737-1807           AL157945.21        2190-2260
            1808-1975           AL157945.21        3779-3946
            1976-2084           AL157945.21        5629-5737
            2085-3859           AL157945.21        11413-13187
            3860-3864           AL157945.21        13188-13192
FEATURES             Location/Qualifiers
     source          1..3864
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..3864
                     /gene="ATAD3C"
                     /note="ATPase family AAA domain containing 3C"
                     /db_xref="GeneID:219293"
                     /db_xref="HGNC:HGNC:32151"
                     /db_xref="MIM:617227"
     exon            1..1070
                     /gene="ATAD3C"
                     /inference="alignment:Splign:2.1.0"
     CDS             996..2231
                     /gene="ATAD3C"
                     /note="ATPase family, AAA domain containing 3A"
                     /codon_start=1
                     /product="ATPase family AAA domain-containing protein 3C"
                     /protein_id="NP_001034300.2"
                     /db_xref="CCDS:CCDS44039.1"
                     /db_xref="GeneID:219293"
                     /db_xref="HGNC:HGNC:32151"
                     /db_xref="MIM:617227"
                     /translation="MSKDALNLAQMQEQTLQLEQQSKLKQLVNEDLRKQEESVQKHHQ
                     TFLESIRAAGTLFGEGFRAFVTDRDKVTATVAGLTLLAVGVYSAKNATAVTGRYIEAR
                     LGKPSLVRETSRITVLEALRHPIQQVSRRLLSRPQDVLEGVVLSPSLEARVRDIAIMT
                     RNIKKNRGLYRHILLYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMH
                     KLFDWANTSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLIL
                     ASCHPEQFDWAINACIDVMVHFDLPGQEERARLVRMYLNEYVLKPATEGKRRLKLAQF
                     DYGRKCLEIARLTEGMSCRKIAQLAVSWQATAYASKDGVLTEAMMDACVQDFVQQHQQ
                     MMRWLKGERPGPEDEQPSS"
     exon            1071..1147
                     /gene="ATAD3C"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1217
                     /gene="ATAD3C"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1373
                     /gene="ATAD3C"
                     /inference="alignment:Splign:2.1.0"
     exon            1374..1433
                     /gene="ATAD3C"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1559
                     /gene="ATAD3C"
                     /inference="alignment:Splign:2.1.0"
     exon            1560..1684
                     /gene="ATAD3C"
                     /inference="alignment:Splign:2.1.0"
     exon            1685..1736
                     /gene="ATAD3C"
                     /inference="alignment:Splign:2.1.0"
     exon            1737..1807
                     /gene="ATAD3C"
                     /inference="alignment:Splign:2.1.0"
     exon            1808..1975
                     /gene="ATAD3C"
                     /inference="alignment:Splign:2.1.0"
     exon            1976..2084
                     /gene="ATAD3C"
                     /inference="alignment:Splign:2.1.0"
     exon            2085..3864
                     /gene="ATAD3C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3838..3843
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATAD3C"
                     /note="hexamer: AATAAA"
     polyA_site      3864
                     /gene="ATAD3C"
                     /note="major polyA site"
ORIGIN      
        1 cttcatgatt aactccccaa ggtcctgcat attttctcaa tgggccaccg cgcccggcca
       61 gaagattttt atggtaaaat tttgtgatgg gaaaactcat cccggaaaat gttgagacct
      121 gatgctgagt cctcagcagc tcagagaata cgtacttctg tcccaggtca cccaaacatt
      181 gacctgtgtc ggttccccac taggaacaaa atgtaactga ggacgttgtc agatgcttgt
      241 cctcgtcacc ctgagcttgt tggctgctat ctaattctta ttctttcatt ttcttgcccg
      301 cacgttcttg atagcagatc actgacaaca gccattggaa gcttaggaaa agggtatgtg
      361 ccgggcgcgg tggctcacac ctgtaatccc agcactttgg gaggctgagg tgggcggatc
      421 acgaggtcag gagatcgaga ccatcctggc taacacggtg aaaccgtctc tactaaaact
      481 acaaaaatta gccgggtgtg gtggcggtcg cctgtagtcc cagctactcg ggaggctgag
      541 gcaggagagt gacgtgaacc cgagaggtag agcttgcagt aagcagagat catgccactg
      601 cactccagcc tgggccagaa tgagactccg tctcaaaaaa aaaaaaaaaa aaagcatgtg
      661 taacgtgaaa aaatggacac tttagccatc gcctgacttt ctgttgaatt gggaaagagc
      721 ctcctcccgt ccacatggga tggccttcct gatgtggctc tccaagacca tccctggagg
      781 gcataaaacc tcacaaatgc atcaggccgt gtgctgggga tggggcatcg tcacgccagg
      841 tctgactagg aaggaggatg gggaggcagg gctgggggct ttgaggtcga ggcgtggccg
      901 tggattccag aaagcccctt ggctggtgtg cgtgcctgcc cagcggcatc cgtgtatcct
      961 aacacctgcc ctccgtgtcc ctgcatctgc aggccatgtc aaaggacgcc ctgaatctgg
     1021 cgcagatgca ggagcagacg ctgcagttgg agcaacagtc caagctcaaa caacttgtca
     1081 atgaggattt acggaagcag gaggagtccg tgcagaagca ccatcagacc ttcttggagt
     1141 ccatcagggc ggctggcacc ttgtttgggg aaggattccg tgcctttgtg acagaccggg
     1201 acaaagtgac agccacggtg gctgggctga cgctgctggc tgtcggggtc tactcagcca
     1261 agaatgcgac agccgtcact ggccgctaca tcgaggctcg gctggggaag ccgtccctag
     1321 tgagggagac gtcccgcatc acggtgcttg aggcgctgcg gcaccccatc cagcaggtca
     1381 gccggcggct cctcagtcga ccccaggacg tgctggaggg tgttgtgctt agtcccagcc
     1441 tggaagcacg ggtgcgcgac atcgccataa tgacaaggaa catcaagaag aaccggggcc
     1501 tgtacaggca catcctgctg tacgggccac caggcaccgg gaagacgctg tttgccaaga
     1561 aactcgccct gcactcaggc atggactacg ccatcatgac aggcggggac gtggccccca
     1621 tggggcggga aggcgtgacc gccatgcaca agctctttga ctgggccaat accagccggc
     1681 gcggcctcct gctctttgtg gatgaagcgg acgccttcct tcggaagcga gccactgaga
     1741 agataagcga ggacctcagg gccacactga acgccttcct gtaccgcacg ggccagcaca
     1801 gcaacaaatt catgctgatc ctggccagct gccaccccga gcagttcgac tgggccatca
     1861 atgcctgcat cgacgtgatg gtccacttcg acctgccagg gcaggaggag cgggcgcgcc
     1921 tggtgagaat gtatcttaac gagtatgttc ttaagccggc cacagaagga aagcggcgtc
     1981 tgaagctggc ccagtttgac tacgggagga agtgcttaga gatcgctcgg ctgacagagg
     2041 gcatgtcatg ccggaagatc gcacagctgg ccgtgtcctg gcaggccacg gcgtatgcct
     2101 ccaaggacgg ggtcctgacc gaggccatga tggacgcctg cgtgcaagac tttgtccagc
     2161 agcaccagca gatgatgcgc tggctgaagg gggagaggcc tgggcccgag gacgagcaac
     2221 cctcatcctg agtccatggg gagaccacac ctcacggagc ctggccgcgg acccctccca
     2281 cccctgcctt tgcggccccg cacatttagg aaatactccc cgtaataaag tcccacgggg
     2341 gccgcaccgc tgtgtctatt ggctgacacg gggcggggtt tggggccccc taacgtcccc
     2401 ctggggtcaa aggtgacaga aaaggcagaa gctggggctt tctggaggat ttaaccacag
     2461 aggggtgggc ttcacaggag gtggctgcca cggcggggcc gggtgcccgt gccccatcct
     2521 gaggccgtgc atacgcgggt gccccttcgc ctccctcccc tccgccagag ctgcctgtgg
     2581 ccagacacac ggtggaggga agtgcacgcg aaacagacac agcggcttca aatagatgcc
     2641 gcccctgccc gcgctttgca gctagtccct gcaaaccttg atgatggggc tgggcgcggt
     2701 ggctcacgcc tggaatctca gcgaggccaa ggagagtgga tcacctgagg tcgggagttc
     2761 cagaccagcc tggccaacat ggtgaaactc catctctcct aaaaaaaaaa aaaaaaaaaa
     2821 aaaaaaaaaa aaaaaaatta gccggccgtg gtggcaagtg cctgaaatcc caggtactca
     2881 ggaggctgag gcaggagaat cacttgagcc cgggaagtgg aggttgcact gagctgagac
     2941 catggaattg cactgcagca tgggcaacaa gagtcaaact ccctctaaaa aaaaaaaaaa
     3001 aaaaagggcc aggtggcaca tgccggtggt cccagcttct tggcttggag gctgaggtag
     3061 gaggatcgcc tgagcatggg aggcagaggt tgcagtgagc caagatcgca ccattgcact
     3121 ccagcctgga tgatagagtg agactgtacc tctaaataac caaaaccttg attacagcca
     3181 tggggtgggg gtgggggtca ggggcgtctg actatggctg gggaactcat ttggtttttc
     3241 tcctctctta tttttttggg tagagacagg gtccctttgt tgcccaggct ggtctccaac
     3301 tcctgggctc aagcaatcct cctgcctcgg cttcctaaag tgttgggatt acaggcttga
     3361 gccaccgtgc ctggtctgtt tttttttttt ttttggcaat agagtcttgc tcgcccaggg
     3421 tggagtgcag tggtgtgatc tcggctcact gcaacctcca ccttcagggt gtcaggcctc
     3481 tgggcccaag ctaagccatc atatctcctg tgacctgcac ttatacatcc agatggcctg
     3541 aagcaactga agatccacaa aataagtgaa aagagcctta actgatgaca ttccaccatt
     3601 gtgatttgtt tctgccccac cctagctgat caatgtactt tgcaatctcc cccaccctta
     3661 agaaggttct ttgtcattct ccccaccctt gagaatgtac tttgtgagat ccatcccctg
     3721 cccgcaaaac attgtcccta actccaccgc ctatcccaaa acctgtaaga actagtgata
     3781 atcccaccac cctttgctga ctctcttttt gaactcagcc cgcctgcacc caggtgaaat
     3841 aaacagcctt gttgctcaca caaa
//
